Rong Du, Chengcheng Zhou, Shehong Chen, Tong Li, Yunting Lin, Aijing Xu, Yonglan Huang, Huifen Mei, Xiaoli Huang, Dongdong Tan, Ruidan Zheng, Cuili Liang, Yanna Cai, Yongxian Shao, Wen Zhang, Li Liu, Chunhua Zeng
BACKGROUND: Lowe syndrome is characterized by the presence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. This study presents a case of an atypical phenotype, investigates the genetic characteristics of eight children diagnosed with Lowe syndrome in southern China, and performs functional analysis of the novel variants. METHODS: Whole-exome sequencing was conducted on eight individuals diagnosed with Lowe syndrome from three medical institutions in southern China...
April 8, 2024: Pediatric Nephrology